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Congenital amegakaryocytic thrombocytopenia
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA
3319
C1327915
MESH:C535982
MONDO:0011469
MONDO:0800451
MPL
Causal
19302922
24438083
CTD
Disgenet
GenCC
Orphanet
THPO
Unknown
20529857
23594368
24085763
28466964
28559357
29191945
32150607
35622056
36226497
36534659
8627177
ClinGen
Disgenet
GWAS catalog
HPO
Orphanet
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
MONDO:0800452
MPL
Causal
10077649
10971406
11071383
11133753
17666371
20529857
23908116
27811851
29296828
7529061
8630375
ClinGen
ClinVar
Disgenet